From Lab to Clinic: Translational Research for Rare Diseases

Syllabus

• Week 1

  Getting into the Translational Medicine

  • Welcome and introduction

    Welcome to this MOOC! In this subactivity you will be introduced to this course, by understanding in which context it has been developed, who are the authors and the main subjects that will be addressed throughout the weeks.

  • Setting the scene

    Here you will learn what a rare disease is, and which are its main features. You will also get introduced to the typical medicines development process and its different phases.

  • What are the specific challenges and opportunities when developing medicines for rare diseases?

    The development process of medicines for rare diseases poses specific challenges with regard to common drugs, for this reason precise initiatives have been developed.

  • Developing a treatment for a rare disease: a case example

    You will be now introduced to the real case of the TK2 deficiency. This will allow you to better understand the challenges and opportunities linked to the treatment development for RDs.

  • Key tools for rare disease research studies

    Successful drug development requires a deep understanding of the disease of interest; for this reason, patient registries and natural history studies are valuable sources of information especially in the rare disease field.

  • Test your knowledge

    What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

• Week 2

  How to move from bench to preclinic studies

  • Welcome and introduction

    In this week you will learn about the very first steps of the drug development process: target identification, lead generation and optimization. At the end of the week, we will discuss also about drug repurposing.

  • How to plan the development of new medicines: an introduction

    The development process of a new drug consists in a series of activities highly regulated and interconnected, surprisingly similar to the building of a Lego model.

  • The target identification

    Drug discovery starts with the initial step of target identification, in other words, a possible therapeutic target (that can be a gene or a protein) and its role in the disease. Several approaches can be used.

  • Going from hits to leads

    Once a promising drug target has been identified, drug development continues with the identification of molecules that can interact with the target to produce desired biological effects, called hits.

  • Drug repurposing

    Drug repurposing consists in finding new therapeutic uses for already existing drugs different from the original medical indication. This approach allows to speed up drug development, by reducing risks and investment.

  • Developing therapies in rare diseases: the promises of new advanced therapies

    Not all the medicines are small-molecule drugs. In this subactivity we will present new advanced therapies and the challenges related to their implementation.

  • Check your knowledge

    What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

• Week 3

  Preclinical models for rare diseases

  • Welcome and introduction

    What are model systems? Why are they needed in preclinical research? Are all model systems equivalent? How recent genetic technologies have impacted on the development of model systems?

  • What are animal models?

    Model organisms are important to obtain knowledge about specific phenomena. But how many models do exist? How to choose the best one?

  • Challenges and new model options in rare diseases

    The choice of the good animal model must take into account the advantages and the limitations of each of them. In the field of rare diseases, this is particularly important, given the specificities of these pathologies.

  • Ethics and animal modeling

    The use of animals in research is essential for enabling researchers to develop new drugs and treatments, but it must follow ethical guidelines known as 3Rs that attempt to lower animal distress and suffering.

  • When to use which types of animal models?

    What considerations must be made when choosing the model animal for a pre-clinical study?

  • Moving from preclinical to clinical studies

    Moving to clinical trials requires to get all the answers that you need from your preclinical model system(s) in order to avoid later suboptimal clinical trials.

  • Why patient partnerships should be developed from the early stages of research

    Thanks to the testimony of Michela, we will understand why and how people living with a rare disease can be a veritable booster for the preclinical research studies.

  • Test your knowledge

    What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

• Week 4

  Clinical trials: for and with rare disease patients

  • Welcome and introduction

    What happens when moving from preclinical studies to clinical trials? Which are the challenges related to the implementation of clinical trials in the rare disease field?

  • Avoiding common mistakes when moving from preclinical to clinical studies

    In order to be effective and to avoid mistakes, clinical trials must be well designed and patients should always be involved. The case example of Drisapersen clearly show the importance of an optimal trial design.

  • From pre-clinical to first-in-human

    What aspects must be considered when setting up a first-in-human clinical trial? Which parameters must be analyzed to establish the efficacy and the safety of a treatment?

  • A real planning process

    The planning and the development of clinical trials is a teamwork and involves the conduction of several activities in parallel.

  • Clinical trial design

    We will now illustrate the challenges related to the implementation of clinical trials, especially in the field of rare diseases and the measures that has been developed to address them.

  • Regulatory issues

    We will discuss the role of regulatory agencies in the development of a medical treatment and the place of patients in regulatory activities.

  • Patient Reported Outcomes

    Patient-reported outcomes are used to assess a patient's health status at a particular point in time. They are particularly relevant when performing clinical trials, the testimony of Jean-Philippe Plançon will explain why.

  • Check your knowledge

    What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

• Week 5

  What happens after a clinical trial?

  • Welcome and introduction

    Welcome to the last week of the course! During this week we will understand what happens after the end of a clinical trial and we will discuss what registries are and why data sharing is particularly relevant in the field of RD.

  • Ending a clinical trial and drug approval process overview

    After the successful finalization of a clinical trial, a medicine or a therapeutic intervention receives marketing authorization, moreover, pricing and reimbursement decisions must be taken.

  • Post marketing authorization studies

    After the marketing approval of a drug or a treatment, the Phase IV of clinical trials starts. This phase is intended to obtain further information about the risks, benefits, and long-term effects of the product.

  • Preclinical & clinical data sharing and reuse

    Sharing and reuse of health data have several advantages in promoting scientific and clinical research, especially in the rare disease context.

  • Check your knowledge

    Time to assess what you have understood this week and to reflect on what you have learnt in this course.

Who will you learn with?